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Childhood-onset nemaline myopathy

Disease definition

Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.

ORPHA:171439

Classification level: Disorder
  • Synonym(s):
    • Mild nemaline myopathy
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: G71.2
  • OMIM: 161800  256030  609273  609284  609285  615731  617336
  • UMLS: C0546125
  • MeSH: -
  • GARD: 7171
  • MedDRA: -

Detailed information

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